A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151247



Internal ID15874903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16551808..16671721hg38UCSC Ensembl
Innerchr22:17032698..17152611hg19UCSC Ensembl
Innerchr22:15412698..15532611hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38119914
hg19119914
hg18119914
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588071
Supporting Variants
SamplesHGDP00607
Known GenesANKRD62P1-PARP4P3, CCT8L2, TPTEP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1151247
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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